Mutagenetix > Incidental Mutation

Incidental Mutation 'R5749:Klk1b16'

445917

Institutional Source

Beutler Lab

Gene Symbol

Klk1b16

Ensembl Gene

ENSMUSG00000038968

Gene Name

kallikrein 1-related peptidase b16

Synonyms

mGk-16, Klk16

MMRRC Submission

043200-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43786191-43791034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43790210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 160 (I160T)

Ref Sequence

ENSEMBL: ENSMUSP00000005933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005933]

AlphaFold

P04071

Predicted Effect

probably benign
Transcript: ENSMUST00000005933
AA Change: I160T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000005933
Gene: ENSMUSG00000038968
AA Change: I160T

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	253	7.64e-80	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	A	11: 54,214,881 (GRCm39)		probably null	Het
Ankrd12	T	C	17: 66,293,091 (GRCm39)	S781G	probably benign	Het
Bicc1	A	G	10: 70,782,799 (GRCm39)	S523P	probably benign	Het
Ccdc163	T	A	4: 116,571,309 (GRCm39)	C44*	probably null	Het
Ccdc83	T	C	7: 89,873,156 (GRCm39)	T400A	probably damaging	Het
Cobl	A	G	11: 12,216,965 (GRCm39)	S426P	possibly damaging	Het
Cyp2b19	T	C	7: 26,462,844 (GRCm39)	I242T	possibly damaging	Het
Efnb2	A	C	8: 8,689,347 (GRCm39)	C92G	probably damaging	Het
Fam90a1a	T	A	8: 22,453,057 (GRCm39)	S137R	possibly damaging	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Fem1b	A	G	9: 62,704,288 (GRCm39)	L324P	probably damaging	Het
Fsd1	T	A	17: 56,302,849 (GRCm39)		probably null	Het
Gtpbp4	A	G	13: 9,045,983 (GRCm39)		probably null	Het
Ifi209	A	C	1: 173,464,893 (GRCm39)	I8L	probably damaging	Het
Itga8	T	C	2: 12,266,889 (GRCm39)	E182G	probably damaging	Het
Itsn1	T	A	16: 91,703,743 (GRCm39)	L87H	probably damaging	Het
Lbp	T	A	2: 158,161,673 (GRCm39)	V52D	probably damaging	Het
Med23	T	C	10: 24,764,347 (GRCm39)	V318A	possibly damaging	Het
Myo16	C	T	8: 10,463,245 (GRCm39)	S604L	probably benign	Het
Or10ag52	C	T	2: 87,043,287 (GRCm39)	T17I	probably benign	Het
Or10g1	T	A	14: 52,647,961 (GRCm39)	M123L	probably damaging	Het
Or5b12	A	G	19: 12,897,589 (GRCm39)	V28A	probably benign	Het
Or6c38	A	T	10: 128,928,966 (GRCm39)	N292K	probably damaging	Het
Pcdh8	T	C	14: 80,007,525 (GRCm39)	D346G	probably damaging	Het
Ppara	A	T	15: 85,673,229 (GRCm39)	D140V	probably benign	Het
Prlr	T	A	15: 10,328,804 (GRCm39)	D426E	probably benign	Het
Prss36	T	A	7: 127,532,814 (GRCm39)	I192F	probably damaging	Het
Psg25	T	C	7: 18,258,776 (GRCm39)	E300G	probably damaging	Het
Pxylp1	A	G	9: 96,738,424 (GRCm39)	F26L	possibly damaging	Het
Rapgef4	A	T	2: 72,073,101 (GRCm39)	T796S	probably damaging	Het
Stard9	A	G	2: 120,534,267 (GRCm39)	H3508R	probably damaging	Het
Tep1	T	A	14: 51,081,529 (GRCm39)	D1282V	possibly damaging	Het
Tgfbr3l	A	G	8: 4,299,310 (GRCm39)	E59G	probably damaging	Het
Tnik	T	C	3: 28,648,241 (GRCm39)	M431T	probably benign	Het
Tns3	A	T	11: 8,401,177 (GRCm39)	H1040Q	probably benign	Het
Usp10	G	A	8: 120,667,872 (GRCm39)	E58K	probably damaging	Het
Vmn2r23	A	G	6: 123,710,232 (GRCm39)	T512A	probably benign	Het
Vmn2r52	C	T	7: 9,892,959 (GRCm39)	D727N	probably damaging	Het
Vmn2r66	T	A	7: 84,655,979 (GRCm39)	K346*	probably null	Het
Vmn2r93	T	A	17: 18,518,546 (GRCm39)	F2I	probably benign	Het
Zfp697	T	C	3: 98,332,780 (GRCm39)	S69P	probably benign	Het
Zftraf1	A	C	15: 76,542,844 (GRCm39)		probably null	Het

Other mutations in Klk1b16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Klk1b16	APN	7	43,790,102 (GRCm39)	missense	probably damaging	0.98
IGL01529:Klk1b16	APN	7	43,790,163 (GRCm39)	missense	probably benign	0.18
R1105:Klk1b16	UTSW	7	43,788,937 (GRCm39)	missense	probably damaging	0.98
R1106:Klk1b16	UTSW	7	43,788,937 (GRCm39)	missense	probably damaging	0.98
R1559:Klk1b16	UTSW	7	43,790,425 (GRCm39)	missense	probably benign	0.00
R3883:Klk1b16	UTSW	7	43,788,887 (GRCm39)	missense	possibly damaging	0.86
R3884:Klk1b16	UTSW	7	43,788,887 (GRCm39)	missense	possibly damaging	0.86
R4152:Klk1b16	UTSW	7	43,789,973 (GRCm39)	missense	probably benign	0.09
R4398:Klk1b16	UTSW	7	43,790,851 (GRCm39)	missense	probably damaging	1.00
R5231:Klk1b16	UTSW	7	43,786,771 (GRCm39)	missense	probably damaging	1.00
R5389:Klk1b16	UTSW	7	43,790,412 (GRCm39)	missense	possibly damaging	0.83
R5470:Klk1b16	UTSW	7	43,786,755 (GRCm39)	missense	probably damaging	0.99
R5532:Klk1b16	UTSW	7	43,790,950 (GRCm39)	missense	probably benign	0.00
R5690:Klk1b16	UTSW	7	43,790,318 (GRCm39)	critical splice acceptor site	probably null
R5717:Klk1b16	UTSW	7	43,788,913 (GRCm39)	missense	probably benign	0.00
R6589:Klk1b16	UTSW	7	43,790,894 (GRCm39)	missense	probably benign	0.03
R7084:Klk1b16	UTSW	7	43,788,910 (GRCm39)	missense	probably benign	0.01
R7336:Klk1b16	UTSW	7	43,790,907 (GRCm39)	missense	probably benign	0.05
R8281:Klk1b16	UTSW	7	43,790,971 (GRCm39)	missense	probably benign
R8358:Klk1b16	UTSW	7	43,790,185 (GRCm39)	missense	probably damaging	1.00
R9002:Klk1b16	UTSW	7	43,790,189 (GRCm39)	missense	possibly damaging	0.88
R9010:Klk1b16	UTSW	7	43,790,177 (GRCm39)	missense	probably benign	0.40
R9013:Klk1b16	UTSW	7	43,790,332 (GRCm39)	missense	probably benign	0.03
X0026:Klk1b16	UTSW	7	43,790,368 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTCTGCTCAAAACCGATTGG -3'
(R):5'- CTTTGGCACAGTTCTCATTGGG -3'

Sequencing Primer
(F):5'- CGATTGGTCAGCAAAAGCTTC -3'
(R):5'- CACAGTTCTCATTGGGCAGGAG -3'

Posted On

2016-11-21